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An Autosomal Dominant Cerebellar Ataxia Linked to Chromosome 16q22.1 Is Associated with a Single-Nucleotide Substitution in the 5′ Untranslated Region of the Gene Encoding a Protein with Spectrin Repeat and Rho Guanine-Nucleotide Exchange-Factor Domains

机译：与染色体16q22.1连锁的常染色体显性小脑共济失调与编码具有血影蛋白重复和Rho鸟嘌呤-核苷酸交换因子结构域的蛋白质的基因的5'非翻译区中的单核苷酸取代相关。

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Ishikawa Kinya; Toru Shuta; Tsunemi Taiji; Li Mingshun; Kobayashi Kazuhiro; Yokota Takanori; Amino Takeshi; Owada Kiyoshi; Fujigasaki Hiroto; Sakamoto Masaki; Tomimitsu Hiroyuki; Takashima Minoru; Kumagai Jiro; Noguchi Yoshihiro; Kawashima Yoshiyuki; Ohkoshi Norio; Ishida Gen; Gomyoda Manabu; Yoshida Mari; Hashizume Yoshio; Saito Yuko; Murayama Shigeo; Yamanouchi Hiroshi; Mizutani Toshio; Kondo Ikuko; Toda Tatsushi; Mizusawa Hidehiro;
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1. The chromosome 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA*): A newly identified degenerative ataxia in Japan showing peculiar morphological changes of the Purkinje cell [J] . Kinya Ishikawa, Hidehiro Mizusawa Neuropathology: official journal of the Japanese Society of Neuropathology . 2010,第5期

机译：染色体16q连锁常染色体显性小脑共济失调（16q-ADCA *）：一种在日本新发现的变性共济失调，表现出浦肯野细胞的特殊形态变化
2. Chromosome 16q22.1-linked autosomal dominant cerebellar ataxia: an autopsy case report with some new observations on cerebellar pathology. [J] . Shintaku M, Kaneda D Neuropathology: official journal of the Japanese Society of Neuropathology . 2009,第3期

机译：染色体16q22.1连锁常染色体显性小脑共济失调：尸检病例报告，关于小脑病理学有一些新发现。
3. CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia. [J] . Fujigasaki H, Martin JJ, De-Deyn PP, Brain: A journal of neurology . 2001,第Pta10期

机译：TATA盒结合蛋白基因中的CAG重复扩增导致常染色体显性优势小脑共济失调。
4. An Autosomal Dominant Cerebellar Ataxia Linked to Chromosome 16q22.1 Is Associated with a Single-Nucleotide Substitution in the 5′ Untranslated Region of the Gene Encoding a Protein with Spectrin Repeat and Rho Guanine-Nucleotide Exchange-Factor Domains [O] . Kinya Ishikawa, Shuta Toru, Taiji Tsunemi, 2005

机译：与染色体16q22.1连锁的常染色体显性小脑共济失调与编码具有血影蛋白重复和Rho鸟嘌呤-核苷酸交换因子结构域的蛋白质的基因的5非翻译区中的单核苷酸取代相关。
5. Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3. [O] . Worth, P F, Giunti, P, Gardner-Thorpe, C, 1999

机译：常染色体显性遗传性小脑共济失调III型：在一个大的英国家庭中与染色体15q14-21.3上的7.6-cM区连锁。

An Autosomal Dominant Cerebellar Ataxia Linked to Chromosome 16q22.1 Is Associated with a Single-Nucleotide Substitution in the 5′ Untranslated Region of the Gene Encoding a Protein with Spectrin Repeat and Rho Guanine-Nucleotide Exchange-Factor Domains

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